Canonical Allele Identifier: CA345413293

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784160-T-C
• MyVariant Identifiers: chr1:g.237947460T>C (hg19) ; chr1:g.237784160T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784160T>C , CM000663.2:g.237784160T>C	GRCh38
NC_000001.10:g.237947460T>C , CM000663.1:g.237947460T>C	GRCh37
NC_000001.9:g.236014083T>C	NCBI36
NG_008799.2:g.746759T>C
NG_008799.3:g.746977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3540T>C	ENSP00000499659.2:n.*3540T>C
ENST00000659194.3:c.12436T>C	ENSP00000499653.3:p.Phe4146Leu
ENST00000660292.2:c.12469T>C	ENSP00000499787.2:p.Phe4157Leu
ENST00000659194.2:c.4625T>C
ENST00000366574.7:c.12448T>C MANE Select	ENSP00000355533.2:p.Phe4150Leu
ENST00000659194.1:c.4625T>C
ENST00000660292.1:c.2501T>C
ENST00000360064.7:c.12400T>C	ENSP00000353174.7:p.Phe4134Leu
ENST00000366574.6:c.12448T>C	ENSP00000355533.2:p.Phe4150Leu
ENST00000609119.1:n.3643T>C
NM_001035.2:c.12448T>C	NP_001026.2:p.Phe4150Leu
XM_006711802.2:c.12502T>C	XP_006711865.1:p.Phe4168Leu
XM_006711803.2:c.12499T>C	XP_006711866.1:p.Phe4167Leu
XM_006711804.2:c.12478T>C	XP_006711867.1:p.Phe4160Leu
XM_006711805.2:c.12472T>C	XP_006711868.1:p.Phe4158Leu
XM_006711806.2:c.12466T>C	XP_006711869.1:p.Phe4156Leu
XM_006711807.2:c.12442T>C	XP_006711870.1:p.Phe4148Leu
XM_006711808.2:c.12265T>C	XP_006711871.1:p.Phe4089Leu
XM_006711810.2:c.12409T>C	XP_006711873.1:p.Phe4137Leu
XM_006711802.3:c.12502T>C	XP_006711865.1:p.Phe4168Leu
XM_006711803.3:c.12499T>C	XP_006711866.1:p.Phe4167Leu
XM_006711804.3:c.12478T>C	XP_006711867.1:p.Phe4160Leu
XM_006711805.3:c.12472T>C	XP_006711868.1:p.Phe4158Leu
XM_006711806.3:c.12466T>C	XP_006711869.1:p.Phe4156Leu
XM_006711807.3:c.12442T>C	XP_006711870.1:p.Phe4148Leu
XM_006711808.3:c.12265T>C	XP_006711871.1:p.Phe4089Leu
XM_006711810.3:c.12409T>C	XP_006711873.1:p.Phe4137Leu
XM_017002028.1:c.12481T>C	XP_016857517.1:p.Phe4161Leu
NM_001035.3:c.12448T>C MANE Select	NP_001026.2:p.Phe4150Leu